{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA386375934",
  "communityStandardTitle": [
    "NM_018171.5(APPL2):c.1436A>T (p.Asp479Val)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.105583573T>A?assembly=hg19",
        "id": "chr12:g.105583573T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.105189795T>A?assembly=hg38",
        "id": "chr12:g.105189795T>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 105189795,
          "referenceAllele": "T",
          "start": 105189794
        }
      ],
      "hgvs": [
        "NC_000012.12:g.105189795T>A",
        "CM000674.2:g.105189795T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 105583573,
          "referenceAllele": "T",
          "start": 105583572
        }
      ],
      "hgvs": [
        "NC_000012.11:g.105583573T>A",
        "CM000674.1:g.105583573T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 104107703,
          "referenceAllele": "T",
          "start": 104107702
        }
      ],
      "hgvs": [
        "NC_000012.10:g.104107703T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 51436,
          "referenceAllele": "A",
          "start": 51435
        }
      ],
      "hgvs": [
        "NG_030419.1:g.51436A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004942"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1598,
          "referenceAllele": "A",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "ENST00000258530.8:c.1436A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258530.3:p.Asp479Val",
        "hgvsWellDefined": "ENSP00000258530.3:p.Asp479Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741920",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258530.8:c.1436A>T"
          },
          "RefSeq": {
            "hgvs": "NM_018171.5:c.1436A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258530.3:p.Asp479Val"
          },
          "RefSeq": {
            "hgvs": "NP_060641.2:p.Asp479Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1662,
          "referenceAllele": "A",
          "start": 1661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "ENST00000258530.7:c.1436A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258530.3:p.Asp479Val",
        "hgvsWellDefined": "ENSP00000258530.3:p.Asp479Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1742,
          "referenceAllele": "A",
          "start": 1741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "ENST00000539978.6:c.1307A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444472.2:p.Asp436Val",
        "hgvsWellDefined": "ENSP00000444472.2:p.Asp436Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1620,
          "referenceAllele": "A",
          "start": 1619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "ENST00000547439.5:c.*721A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449410.1:n.*721A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366276"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1446,
          "referenceAllele": "A",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "ENST00000547809.5:n.1446A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1525,
          "referenceAllele": "A",
          "start": 1524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "ENST00000551662.5:c.1454A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446917.1:p.Asp485Val",
        "hgvsWellDefined": "ENSP00000446917.1:p.Asp485Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368793"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 276,
          "referenceAllele": "A",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "ENST00000552945.1:n.276A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 80,
          "referenceAllele": "A",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "ENST00000553109.1:c.80A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446510.1:p.Asp27Val",
        "hgvsWellDefined": "ENSP00000446510.1:p.Asp27Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369637"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1672,
          "referenceAllele": "A",
          "start": 1671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "NM_001251904.1:c.1454A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238833.1:p.Asp485Val",
        "hgvsWellDefined": "NP_001238833.1:p.Asp485Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018798"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1697,
          "referenceAllele": "A",
          "start": 1696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "NM_001251905.1:c.1307A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238834.1:p.Asp436Val",
        "hgvsWellDefined": "NP_001238834.1:p.Asp436Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1654,
          "referenceAllele": "A",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "NM_018171.3:c.1436A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060641.2:p.Asp479Val",
        "hgvsWellDefined": "NP_060641.2:p.Asp479Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035512"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1591,
          "referenceAllele": "A",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_006719472.1:c.1454A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719535.1:p.Asp485Val",
        "hgvsWellDefined": "XP_006719535.1:p.Asp485Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3124,
          "referenceAllele": "A",
          "start": 3123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_011538530.1:c.1415A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536832.1:p.Asp472Val",
        "hgvsWellDefined": "XP_011536832.1:p.Asp472Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2548,
          "referenceAllele": "A",
          "start": 2547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_011538531.1:c.1325A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536833.1:p.Asp442Val",
        "hgvsWellDefined": "XP_011536833.1:p.Asp442Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4014,
          "referenceAllele": "A",
          "start": 4013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_011538532.1:c.1325A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536834.1:p.Asp442Val",
        "hgvsWellDefined": "XP_011536834.1:p.Asp442Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105487"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3124,
          "referenceAllele": "A",
          "start": 3123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_011538530.3:c.1415A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536832.1:p.Asp472Val",
        "hgvsWellDefined": "XP_011536832.1:p.Asp472Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2603,
          "referenceAllele": "A",
          "start": 2602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_011538531.3:c.1325A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536833.1:p.Asp442Val",
        "hgvsWellDefined": "XP_011536833.1:p.Asp442Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4113,
          "referenceAllele": "A",
          "start": 4112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_011538532.3:c.1325A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536834.1:p.Asp442Val",
        "hgvsWellDefined": "XP_011536834.1:p.Asp442Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553310"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2059,
          "referenceAllele": "A",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_017019551.2:c.1397A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875040.1:p.Asp466Val",
        "hgvsWellDefined": "XP_016875040.1:p.Asp466Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2584,
          "referenceAllele": "A",
          "start": 2583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_017019552.2:c.1307A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875041.1:p.Asp436Val",
        "hgvsWellDefined": "XP_016875041.1:p.Asp436Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4367,
          "referenceAllele": "A",
          "start": 4366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_017019553.2:c.1307A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875042.1:p.Asp436Val",
        "hgvsWellDefined": "XP_016875042.1:p.Asp436Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571237"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1573,
          "referenceAllele": "A",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_017019554.1:c.1436A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875043.1:p.Asp479Val",
        "hgvsWellDefined": "XP_016875043.1:p.Asp479Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571238"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1616,
          "referenceAllele": "A",
          "start": 1615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XR_001748795.1:n.1616A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1598,
          "referenceAllele": "A",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XR_001748796.1:n.1598A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1598,
          "referenceAllele": "A",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "NM_018171.4:c.1436A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060641.2:p.Asp479Val",
        "hgvsWellDefined": "NP_060641.2:p.Asp479Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1598,
          "referenceAllele": "A",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "NM_018171.5:c.1436A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060641.2:p.Asp479Val",
        "hgvsWellDefined": "NP_060641.2:p.Asp479Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697976",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258530.8:c.1436A>T"
          },
          "RefSeq": {
            "hgvs": "NM_018171.5:c.1436A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258530.3:p.Asp479Val"
          },
          "RefSeq": {
            "hgvs": "NP_060641.2:p.Asp479Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1616,
          "referenceAllele": "A",
          "start": 1615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "NM_001251904.2:c.1454A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238833.1:p.Asp485Val",
        "hgvsWellDefined": "NP_001238833.1:p.Asp485Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714598"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1512,
          "referenceAllele": "A",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "NM_001251905.2:c.1307A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238834.1:p.Asp436Val",
        "hgvsWellDefined": "NP_001238834.1:p.Asp436Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714599"
    }
  ],
  "type": "nucleotide"
}